WHSC1 Gene
protein-coding GIFtS: 65
GCID: GC04P001840
|
|
Wolf-Hirschhorn syndrome candidate 1
| |
Aliases
for WHSC1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Wolf-Hirschhorn Syndrome Candidate 11 2 | | IL5 Promoter REII Region-Binding Protein2 | | MMSET1 2 3 | | Multiple Myeloma SET Domain Containing Protein Type III2 | | NSD21 2 3 | | Probable Histone-Lysine N-Methyltransferase NSD22 | | Nuclear SET Domain-Containing Protein 22 3 | | Trithorax/Ash1-Related Protein 52 | | TRX52 3 | | KIAA10903 | | EC 2.1.1.433 8 | | Multiple Myeloma SET Domain-Containing Protein3 | | REIIBP2 | | Protein Trithorax-53 | | WHS2 | | Wolf-Hirschhorn Syndrome Candidate 1 Protein3 | | Histone-Lysine N-Methyltransferase NSD22 | | |
Export aliases for WHSC1 gene to outside databasesPrevious GC identifers: GC04P001886 GC04M001800 GC04P001834 GC04P001856 |
Summaries
for WHSC1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for WHSC1:
This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMGbox, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhornsyndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocationt(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variantsencoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence notrepresented as reference sequences. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: NSD2_HUMAN, O96028Function: Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity. Isoform RE-IIBP mayact as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment
Gene Wiki entry for WHSC1
|
Genomic Views
for WHSC1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000004.11 NC_018915.1 NT_006051.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the WHSC1 gene promoter:
STAT1 AML1a p53 STAT1beta STAT1alpha HNF-1A HNF-1 NF-kappaB1 Pax-4a
Other transcription factors
Search SABiosciences Chromatin IP Primers for WHSC1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WHSC1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 4p16.3 Ensembl cytogenetic band: 4p16.3 HGNC cytogenetic band: 4p16.3WHSC1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P001840: view genomic region
(about GC identifiers)
Start:
|
1,873,123 bp from pter |
End:
|
1,983,934 bp from pter |
Size:
|
110,812 bases |
Orientation:
|
plus strand |
|
Proteins
for WHSC1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: NSD2_HUMAN, O96028 (See
protein sequence)Recommended Name: Histone-lysine N-methyltransferase NSD2 Size: 1365 amino acids; 152258 Da
Subcellular location: Nucleus. Chromosome (Potential)
Subcellular location: Isoform 4: Cytoplasm
Sequence caution: Sequence=BAA83042.2; Type=Erroneous initiation;
Secondary accessions: A2A2T2 A2A2T3 A2A2T4 A7MCZ1 D3DVQ2 O96031 Q4VBY8 Q672J1 Q6IS00 Q86V01 Q9BZB4Q9UI92 Q9UPR2Alternative splicing: 7 isoforms: O96028-1 O96028-2 O96028-3 O96028-4 O96028-5 O96028-6 O96028-7 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for WHSC1: NX_O96028
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O96028
4/7 DME Specific Peptides for WHSC1 (O96028) (see all 7)
WHSC1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (6 alternative transcripts):
NP_001035889.1 NP_015627.1 NP_579877.1 NP_579878.1 NP_579889.1 NP_579890.1
ENSEMBL proteins: ENSP00000423972 ENSP00000421551 ENSP00000421681 ENSP00000427434 ENSP00000329167 ENSP00000399251 ENSP00000308780 ENSP00000372351 ENSP00000425761 ENSP00000422878 ENSP00000427516 ENSP00000424482 ENSP00000425094 ENSP00000372344 ENSP00000372347 ENSP00000372348 ENSP00000381311 ENSP00000416725
Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
WHSC1 for ontologies About GeneDecksing
WHSC1 Antibody Products:
Assay Products for WHSC1: |
Protein
Domains /
Families
for WHSC1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
WHSC1 for domains About GeneDecksing
5/11 InterPro domains/families (see all 11):Graphical View of Domain Structure for InterPro Entry O96028ProtoNet protein and cluster: O96028 4 Blocks protein families: IPB000313 PWWP domain IPB001214 Nuclear protein SET IPB001841 Zn-finger IPB003616 SET-related region
UniProtKB/Swiss-Prot: NSD2_HUMAN, O96028Similarity: Belongs to the histone-lysine methyltransferase family. SET2 subfamilySimilarity: Contains 1 AWS domainSimilarity: Contains 1 HMG box DNA-binding domainSimilarity: Contains 4 PHD-type zinc fingersSimilarity: Contains 1 post-SET domainSimilarity: Contains 2 PWWP domainsSimilarity: Contains 1 SET domain |
Function
for WHSC1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: NSD2_HUMAN, O96028Function: Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity. Isoform RE-IIBP mayact as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitmentCatalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +N(6)-methyl-L-lysine-[histone] Genatlas biochemistry entry for WHSC1:Wolf-Hirschhorn syndrome candidate gene 1,ubiquitously expressed and undergoing complex alternative splicing anddifferential polyadenylation homolog to Drosophila dysmorphy gene ash,fused to IgH in multiple myeloma withtranslocation t(4;14)((p16.3;q32) with FGFR3 overexpression
Enzyme Number (IUBMB): EC 2.1.1.431 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WHSC1 (see all 9)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WHSC1 (see all 6)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 6): WHSC1 (NM_001042424) | |  | Sino Biological Human cDNA Clone for WHSC1 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for WHSC1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WHSC1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WHSC1 |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
WHSC1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for WHSC1:
Animal Models:
6 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Whsc1):
WHSC1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for WHSC1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Lysine degradation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Kegg Pathway (Kegg details for WHSC1):
WHSC1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for WHSC1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 12)
5/14 Interacting proteins for WHSC1 (O960282, 3 ENSP000003291674) via UniProtKB, MINT, STRING, and/or I2D (see all 14)About this table
Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter |
IEA | -- | | GO:0003149 | membranous septum morphogenesis |
IEA | -- | | GO:0003289 | atrial septum primum morphogenesis |
IEA | -- | | GO:0003290 | atrial septum secundum morphogenesis |
IEA | -- | | GO:0006351 | transcription, DNA-dependent |
IEA | -- |
WHSC1 for ontologies About GeneDecksing
|
Drugs & Compounds
for WHSC1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for WHSC1
3 HMDB Compounds for WHSC1 About this table
Search CenterWatch for drugs/clinical trials and news about WHSC1 / NSD2
|
Transcripts
for WHSC1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for WHSC1 gene (10 alternative transcripts): NM_001042424.2 NM_007331.1 NM_133330.2 NM_133331.2 NM_133334.2 NM_133335.3 NM_014919.1 NM_133332.1 NM_133333.1 NM_133336.2 Unigene Cluster for WHSC1: Wolf-Hirschhorn syndrome candidate 1 Hs.113876 [show with all ESTs]Unigene Representative Sequence: NM_13333418/27 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27): ENST00000508803 ENST00000507820 ENST00000508355(uc003gdx.3) ENST00000514045
ENST00000515806 ENST00000353275(uc003geb.4 uc003gee.4) ENST00000420906(uc003gdy.1 uc003gea.1)
ENST00000312087(uc003gef.4) ENST00000382895(uc003gdz.4 uc003gei.4 uc011bvh.2 uc010icf.3)
ENST00000503128(uc010ice.1) ENST00000509115 ENST00000512700 ENST00000511904
ENST00000513726 ENST00000482415 ENST00000514329 ENST00000502425 ENST00000382888
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WHSC1 (see all 9)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WHSC1 (see all 6)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 6): WHSC1 (NM_001042424) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for WHSC1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WHSC1 |
Additional cDNA sequence: AB029013.1 AF071593.1 AF071594.1 AF083386.1 AF083387.1 AF083388.1 AF083391.1 AF330040.1 AJ007042.1 AK026939.1 AK289697.1 AY694128.1 BC020545.1 BC032731.2 BC052254.1 BC070176.1 BC094825.1 BC110899.1 BC141815.1 BC144464.1 BC152412.1 BX647495.1 DQ185035.1 24/29 DOTS entries (see all 29): DT.95348991 DT.92449827 DT.101982246 DT.103476 DT.100820941 DT.100030996 DT.92056183 DT.92449828 DT.453320 DT.101957456 DT.121259750 DT.97802080 DT.40221326 DT.92449822 DT.100670240 DT.91953338 DT.95282891 DT.97851007 DT.121259837 DT.420222 DT.97775610 DT.99963718 DT.100803448 DT.102836921 24/567 AceView cDNA sequences (see all 567): BQ028135 AI418195 BF002205 AW503479 NM_133335 BU728267 AF330040 BU622122 AW575653 AF071593 AW026452 AA765696 AI283545 AW016293 BF529734 AA732645 CF136832 BQ956179 AL079673 BE297290 AF083391 AW505350 AA809848 BF970701
GeneLoc Exon Structure
5/22 Alternative Splicing Database (ASD) splice patterns (SP) for WHSC1 (see all 22) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | · | 15c | ^ | 16a | · | 16b | · |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | - | | | | | | | | - | | | | | | | | - | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | - | | | | | | | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | - | | | | | | | | - | | | | | | - | | - | | |
| SP4: | | | | | | | | | - | | | | | | | | | | | | | | | | - | | - | | | | | | | | - | | | | | | | | - | | | | | | - | | - | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | |
| ExUns: | 16c | · | 16d | ^ | 17a | · | 17b | ^ | 18a | · | 18b | · | 18c | · | 18d | · | 18e | ^ | 19a | · | 19b | ^ | 20a | · | 20b | ^ | 21 | ^ | 22a | · | 22b | ^ | 23a | · | 23b | ^ | 24a | · | 24b | ^ | 25a | · | 25b | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b | ^ |
|---|
|
| SP1: | - | | - | | - | | | | - | | | | | | - | | - | | - | | - | | | | | | - | | | | | | - | | | | | | | | | | | | | | | | - | | | | |
| SP2: | - | | - | | - | | | | - | | | | | | - | | - | | - | | - | | | | | | - | | | | | | - | | | | | | | | | | | | | | | | - | | | | |
| SP3: | - | | - | | - | | | | - | | | | | | - | | - | | - | | - | | | | | | - | | | | | | - | | | | | | | | | | | | | | | | - | | | | |
| SP4: | - | | - | | - | | | | - | | | | | | - | | - | | - | | - | | | | | | - | | | | | | - | | | | | | | | | | | | | | | | - | | | | |
| SP5: | - | | - | | - | | | | - | | | | | | - | | - | | - | | - | | | | | | - | | | | | | - | | | | | | | | | | | | | | | | - | | | |
| ExUns: | 29a | · | 29b | ^ | 30 | ^ | 31a | · | 31b | · | 31c |
|---|
|
| SP1: | | | - | | | | | | | | | | |
| SP2: | | | - | | | | | | | | | | |
| SP3: | | | - | | | | | | | | | | |
| SP4: | | | - | | | | | | | | | | |
| SP5: | | | - | | | | | | | | | |
ECgene alternative splicing isoforms for WHSC1
|
Expression
for WHSC1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| WHSC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTGGCTGGG
About this image
See WHSC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for WHSC1
SOURCE GeneReport for Unigene cluster: Hs.113876
UniProtKB/Swiss-Prot: NSD2_HUMAN, O96028Tissue specificity: Widely expressed
SABiosciences Expression via Pathway-Focused PCR Arrays including WHSC1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for WHSC1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat WHSC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat WHSC1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat WHSC1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WHSC1 |
Orthologs
for WHSC1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for WHSC1 gene from 6/23 species (see all 23) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
WHSC11 |
Wolf-Hirschhorn syndrome candidate 1 |
76.59(n)
80.74(a) |
|
422897 XM_420839.3 XP_420839.2 |
lizard
(Anolis carolinensis) |
Reptilia |
WHSC16 |
-- |
72(a) |
1 ↔ 1 |
GL343297.1(67110-122160) |
African clawed frog
(Xenopus laevis) |
Amphibia |
CA974710.12 |
-- |
76.66(n) |
|
CA974710.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
wufc12c042 |
Transcribed sequence with weak similarity to protein more |
78.51(n) |
|
CK025173.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
ash16Mes-46 |
Mes-4 |
5(a)22(a) |
possible ortholog1 ↔ many |
3L(19583873-19591855) 3R(23758704-23763571) |
worm
(Caenorhabditis elegans) |
Secernentea |
mes-26mes-46 |
Histone-lysine N-methyltransferase mes-4 |
9(a)11(a) |
possible orthologpossible ortholog |
II(14383900-14388414) V(13433040-13437533) |
ENSEMBL Gene Tree for WHSC1 (if available)
TreeFam Gene Tree for WHSC1 (if available) |
Paralogs
for WHSC1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for WHSC1 gene
- NSD12 EZH12 SUV39H22 WHSC1L12 SETDB22 SETD22 SUV39H12 EHMT12
- EHMT22 EZH22 SETDB12
5 SIMAP similar genes for WHSC1 using alignment to 8 protein entries: NSD2_HUMAN (see all proteins):DKFZp666C163 NSD1 AIRE WHSC1L1 MSH6
WHSC1 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for WHSC1
PGOHUM00000250473
|
Genomic Variants
for WHSC1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for WHSC1
1 CNV: 68618
1 Indel: 59155
Human Gene Mutation Database (HGMD): WHSC1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing WHSC1 |
|
Disorders
/ Diseases
for WHSC1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
WHSC1 for disorders About GeneDecksing
OMIM gene information: 602952
OMIM disorders: --
UniProtKB/Swiss-Prot: NSD2_HUMAN, O96028
Note=A chromosomal aberration involving WHSC1 is a cause of multiple myeloma tumors. Translocationt(4;14)(p16.3;q32.3) with IgH Note=WHSC1 is located in the Wolf-Hirschhorn syndrome (WHS) critical region. WHS results from by sub-telomericdeletions in the short arm of chromosome 4. WHSC1 is deleted in every case, however deletion of linked genescontributes to both the severity of the core characteristics and the presence of the additional syndromic problems
11  diseases for WHSC1: About MalaCardswolf-hirschhorn syndrome multiple myeloma myeloma intellectual disability
amyloidosis microcephaly hermaphroditism homocysteine
breast cancer neuroblastoma malaria
1 disease from the University of Copenhagen DISEASES database for WHSC1:Wolf-Hirschhorn syndrome 3 Novoseek disease relationships for WHSC1 gene About this table
Human Genome Epidemiology (HuGE) Navigator: WHSC1 (2 documents)
Export disorders for WHSC1 gene to outside databases
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Publications
for WHSC1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for WHSC1 gene, integrated from 9 sources (see all 74):
(articles sorted by number of sources associating them with WHSC1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts. (PubMed id 9787135)1, 2, 3, 9 Chesi M....Bergsagel P.L. (1998)
- WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. (PubMed id 9618163)1, 2, 3, 9 Stec I.... den Dunnen J.T. (1998)
- Multiple-myeloma-related WHSC1/MMSET isoform RE-IIBP is a histone methyltransferase with transcriptional repression activity. (PubMed id 18172012)1, 2, 9 Kim J.Y.... Seo S.B. (2008)
- A unique mRNA initiated within a middle intron of WHSC1/MMSET encodes a DNA binding protein that suppresses human IL-5 transcription. (PubMed id 11152655)1, 2, 9 Garlisi C.G.... Umland S.P. (2001)
- The etiology of Wolf-Hirschhorn syndrome. (PubMed id 15734578)1, 2, 9 Bergemann A.D.... Hirschhorn K. (2005)
- Transcription repression activity is associated with the type I isoform of the MMSET gene involved in t(4;14) in multiple myeloma. (PubMed id 16197452)1, 2, 9 Todoerti K.... Neri A. (2005)
- Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients. (PubMed id 15677557)1, 2, 9 Keats J.J....Pilarski L.M. (2005)
- A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript. (PubMed id 12433679)1, 2, 9 Santra M.... Shaughnessy J. Jr. (2003)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- Identification of ID-1 as a potential target gene of MMSET in multiple myeloma. (PubMed id 16115125)1, 2 Hudlebusch H.R....Rasmussen T. (2005)
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External Searches for WHSC1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing WHSC1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing WHSC1 gene
(According to HUGE)
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Specialized Databases showing WHSC1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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About This Section
| Patent Information for WHSC1 gene:
Search GeneIP for patents involving WHSC1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for WHSC1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for WHSC1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for WHSC1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for WHSC1 | | | OriGene Protein Over-expression Lysate for WHSC1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for WHSC1 | | OriGene 3'-UTR Clone for WHSC1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WHSC1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WHSC1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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